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Journal Abstract Search


147 related items for PubMed ID: 38630375

  • 21. Novel and Previously Known Mutations of the KCNV2 Gene Cause Various Variants of the Clinical Course of Cone Dystrophy with Supernormal Rod Response in Children.
    Alsalloum A, Mosin I, Shefer K, Mingaleva N, Kim A, Feoktistova S, Malyugin B, Boiko E, Sultanov S, Mityaeva O, Volchkov P.
    J Clin Med; 2024 Aug 06; 13(16):. PubMed ID: 39200733
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  • 22. Novel mutations in the KCNV2 gene in patients with cone dystrophy and a supernormal rod electroretinogram.
    Thiagalingam S, McGee TL, Weleber RG, Sandberg MA, Trzupek KM, Berson EL, Dryja TP.
    Ophthalmic Genet; 2007 Sep 06; 28(3):135-42. PubMed ID: 17896311
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  • 23. Coexistence of GNAT1 and ABCA4 variants associated with Nougaret-type congenital stationary night blindness and childhood-onset cone-rod dystrophy.
    Hayashi T, Hosono K, Kurata K, Katagiri S, Mizobuchi K, Ueno S, Kondo M, Nakano T, Hotta Y.
    Doc Ophthalmol; 2020 Apr 06; 140(2):147-157. PubMed ID: 31583501
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  • 24. The Role of the Voltage-Gated Potassium Channel Proteins Kv8.2 and Kv2.1 in Vision and Retinal Disease: Insights from the Study of Mouse Gene Knock-Out Mutations.
    Hart NS, Mountford JK, Voigt V, Fuller-Carter P, Barth M, Nerbonne JM, Hunt DM, Carvalho LS.
    eNeuro; 2019 Apr 06; 6(1):. PubMed ID: 30820446
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  • 25. 'Cone dystrophy with supranormal rod response' in children.
    Khan AO, Alrashed M, Alkuraya FS.
    Br J Ophthalmol; 2012 Mar 06; 96(3):422-6. PubMed ID: 21900228
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  • 26. Phenotypic characteristics including in vivo cone photoreceptor mosaic in KCNV2-related "cone dystrophy with supernormal rod electroretinogram".
    Vincent A, Wright T, Garcia-Sanchez Y, Kisilak M, Campbell M, Westall C, Héon E.
    Invest Ophthalmol Vis Sci; 2013 Jan 30; 54(1):898-908. PubMed ID: 23221069
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  • 27. Novel KCNV2 mutations in cone dystrophy with supernormal rod electroretinogram.
    Ben Salah S, Kamei S, Sénéćhal A, Lopez S, Bazalgette C, Bazalgette C, Eliaou CM, Zanlonghi X, Hamel CP.
    Am J Ophthalmol; 2008 Jun 30; 145(6):1099-106. PubMed ID: 18400204
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  • 30. Molecular, Cellular and Functional Changes in the Retinas of Young Adult Mice Lacking the Voltage-Gated K+ Channel Subunits Kv8.2 and K2.1.
    Jiang X, Rashwan R, Voigt V, Nerbonne J, Hunt DM, Carvalho LS.
    Int J Mol Sci; 2021 May 05; 22(9):. PubMed ID: 34063002
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  • 32. A novel homozygous GRK1 mutation (P391H) in 2 siblings with Oguchi disease with markedly reduced cone responses.
    Hayashi T, Gekka T, Takeuchi T, Goto-Omoto S, Kitahara K.
    Ophthalmology; 2007 Jan 05; 114(1):134-41. PubMed ID: 17070587
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  • 35. Childhood cone-rod dystrophy with macular cystic degeneration from recessive CRB1 mutation.
    Khan AO, Aldahmesh MA, Abu-Safieh L, Alkuraya FS.
    Ophthalmic Genet; 2014 Sep 05; 35(3):130-7. PubMed ID: 23767994
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  • 36. High-resolution optical coherence tomography imaging in KCNV2 retinopathy.
    Sergouniotis PI, Holder GE, Robson AG, Michaelides M, Webster AR, Moore AT.
    Br J Ophthalmol; 2012 Feb 05; 96(2):213-7. PubMed ID: 21558291
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  • 37. Generation of two human induced pluripotent stem cell lines (ABi001-A and ABi002-A) from cone dystrophy with supernormal rod response patients caused by KCNV2 mutation.
    Alsalloum A, Mityaeva O, Kegeles E, Khavina E, Volchkov P.
    Stem Cell Res; 2023 Jun 05; 69():103099. PubMed ID: 37121194
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